RESUMO
BACKGROUND: Post-mortem MRI is a potential diagnostic alternative to conventional autopsy, but few large prospective studies have compared its accuracy with that of conventional autopsy. We assessed the accuracy of whole-body, post-mortem MRI for detection of major pathological lesions associated with death in a prospective cohort of fetuses and children. METHODS: In this prospective validation study, we did pre-autopsy, post-mortem, whole-body MRI at 1·5 T in an unselected population of fetuses (≤24 weeks' or >24 weeks' gestation) and children (aged <16 years) at two UK centres in London between March 1, 2007 and Sept 30, 2011. With conventional autopsy as the diagnostic gold standard, we assessed MRI findings alone, or in conjunction with other minimally invasive post-mortem investigations (minimally invasive autopsy), for accuracy in detection of cause of death or major pathological abnormalities. A radiologist and pathologist who were masked to the autopsy findings indicated whether the minimally invasive autopsy would have been adequate. The primary outcome was concordance rate between minimally invasive and conventional autopsy. FINDINGS: We analysed 400 cases, of which 277 (69%) were fetuses and 123 (31%) were children. Cause of death or major pathological lesion detected by minimally invasive autopsy was concordant with conventional autopsy in 357 (89·3%, 95% CI 85·8-91·9) cases: 175 (94·6%, 90·3-97·0) of 185 fetuses at 24 weeks' gestation or less, 88 (95·7%, 89·3-98·3) of 92 fetuses at more than 24 weeks' gestation, 34 (81·0%, 66·7-90·0) [corrected] of 42 newborns aged 1 month or younger, 45 (84·9%, 72·9-92·1) of 53 infants aged older than 1 month to 1 year or younger, and 15 (53·6%, 35·8-70·5) of 28 children aged older than 1 year to 16 years or younger. The dedicated radiologist or pathologist review of the minimally invasive autopsy showed that in 165 (41%) cases a full autopsy might not have been needed; in these cases, concordance between autopsy and minimally invasive autopsy was 99·4% (96·6-99·9). INTERPRETATION: Minimally invasive autopsy has accuracy similar to that of conventional autopsy for detection of cause of death or major pathological abnormality after death in fetuses, newborns, and infants, but was less accurate in older children. If undertaken jointly by pathologists and radiologists, minimally invasive autopsy could be an acceptable alternative to conventional autopsy in selected cases. FUNDING: Policy research Programme, Department of Health, UK.
Assuntos
Autopsia/métodos , Imageamento por Ressonância Magnética/métodos , Adolescente , Autopsia/normas , Causas de Morte , Criança , Pré-Escolar , Morte Fetal/patologia , Humanos , Lactente , Imageamento por Ressonância Magnética/normas , Estudos Prospectivos , Sensibilidade e Especificidade , Imagem Corporal Total/métodos , Imagem Corporal Total/normasRESUMO
Evaluation of fetal age is an essential element in many fields such as anthropology, odontology, paleopathology, and forensic sciences. This study examines the correlation between fetal age, femoral diaphyseal length (considered as the gold standard), and deciduous tooth germs of fetuses aged 22 to 40 weeks amenorrhea (WA) based on computed tomography (MSCT) reconstructions. Qualitative and quantitative studies of femoral and deciduous tooth germ lengths were performed on 81 fetuses (39 females and 42 males). R software was used for statistical analyses. Intra-observer and inter-observer variabilities and the interclass correlation coefficient (ICC) were calculated. Correlation coefficients (R (2)) and linear regression equations were calculated. Intra- and inter-observer variabilities were very satisfactory (intra-observer ICC ≥ 0.96, inter-observer ICC ≥ 0.95). Femoral length was significantly correlated with age (R (2) = 0.9). The correlation coefficient between age and height, width, and dental volume was R (2) ≥ 0.73. Tooth germs were good indicators of fetal age. Our method appears to be reliable and reproducible, and the results of this study agreed with those of the literature. The dental formula provided a precise estimation of fetal age between 25 and 32 WA. Tooth germs were reliable indicators of fetal age, and multislice computed tomography was shown to be an innovative and reliable technology for this purpose.
Assuntos
Determinação da Idade pelos Dentes/métodos , Idade Gestacional , Tomografia Computadorizada Multidetectores/métodos , Germe de Dente/diagnóstico por imagem , Germe de Dente/embriologia , Dente Decíduo/diagnóstico por imagem , Dente Decíduo/embriologia , Aborto Espontâneo/diagnóstico por imagem , Aborto Espontâneo/patologia , Determinação da Idade pelo Esqueleto , Feminino , Fêmur/diagnóstico por imagem , Fêmur/embriologia , Fêmur/patologia , Morte Fetal/diagnóstico por imagem , Morte Fetal/patologia , França , Humanos , Valor Preditivo dos Testes , Gravidez , Software , Germe de Dente/patologia , Dente Decíduo/patologiaRESUMO
LPS is associated with adverse developmental outcomes, including preterm delivery, fetal death, teratogenicity, and intrauterine growth restriction (IUGR). Previous reports showed that zinc protected against LPS-induced teratogenicity. In the current study, we investigated the effects of zinc supplementation during pregnancy on LPS-induced preterm delivery, fetal death and IUGR. All pregnant mice except controls were i.p. injected with LPS (75 µg/kg) daily from gestational day (GD) 15 to GD17. Some pregnant mice were administered zinc sulfate through drinking water (75 mg elemental Zn per liter) throughout the pregnancy. As expected, an i.p. injection with LPS daily from GD15 to GD17 resulted in 36.4% (4/11) of dams delivered before GD18. In dams that completed the pregnancy, 63.2% of fetuses were dead. Moreover, LPS significantly reduced fetal weight and crown-rump length. Of interest, zinc supplementation during pregnancy protected mice from LPS-induced preterm delivery and fetal death. In addition, zinc supplementation significantly alleviated LPS-induced IUGR and skeletal development retardation. Further experiments showed that zinc supplementation significantly attenuated LPS-induced expression of placental inflammatory cytokines and cyclooxygenase-2. Zinc supplementation also significantly attenuated LPS-induced activation of NF-κB and MAPK signaling in mononuclear sinusoidal trophoblast giant cells of the labyrinth zone. It inhibited LPS-induced placental AKT phosphorylation as well. In conclusion, zinc supplementation during pregnancy protects against LPS-induced fetal growth restriction and demise through its anti-inflammatory effect.
Assuntos
Anti-Inflamatórios não Esteroides/administração & dosagem , Suplementos Nutricionais , Morte Fetal/prevenção & controle , Retardo do Crescimento Fetal/prevenção & controle , Lipopolissacarídeos/antagonistas & inibidores , Lipopolissacarídeos/toxicidade , Zinco/administração & dosagem , Animais , Anti-Inflamatórios não Esteroides/uso terapêutico , Suplementos Nutricionais/estatística & dados numéricos , Feminino , Morte Fetal/imunologia , Morte Fetal/patologia , Retardo do Crescimento Fetal/mortalidade , Retardo do Crescimento Fetal/patologia , Monitorização Fetal/métodos , Monitorização Fetal/mortalidade , Masculino , Camundongos , Camundongos Endogâmicos ICR , Gravidez , Nascimento Prematuro/mortalidade , Nascimento Prematuro/patologia , Nascimento Prematuro/prevenção & controle , Distribuição Aleatória , Zinco/uso terapêuticoRESUMO
AIMS: Intrauterine death is a multifactorial major complication during pregnancy. In this retrospective analysis the pathological anatomical findings of fetuses and placentas as well as maternal factors were evaluated. MATERIAL AND METHODS: A retrospective screening of post-mortem examinations, corresponding placental examinations and clinical data on maternal status (1998-2008) was carried out. A classification of all findings was made with the ReCoDe system and induced abortions and cases with incomplete data were excluded from the study. RESULTS: A total of 84 pregnancies involving 87 fetuses (9 siblings) were evaluated. The median gestation age was 20 weeks (range 12-41). The evaluation based on the ReCoDe system revealed that intrauterine death was mainly associated with placental diseases (n = 63) and to a lesser extent with fetal malformations (n = 15) or maternal diseases (n = 4). Idiopathic cases were rare (n = 2). CONCLUSIONS: Placental examination is important for explaining intrauterine death because in most cases an association with placental diseases can be found but fetal malformation and maternal diseases must be taken into account.
Assuntos
Aborto Espontâneo/patologia , Morte Fetal/patologia , Aborto Habitual/patologia , Adolescente , Adulto , Causas de Morte , Anormalidades Congênitas/patologia , Feminino , Retardo do Crescimento Fetal/patologia , Feto/patologia , Idade Gestacional , Humanos , Pessoa de Meia-Idade , Placenta/patologia , Doenças Placentárias/patologia , Gravidez , Estudos Retrospectivos , Fatores de Risco , Adulto JovemRESUMO
In the pancreas of fetuses at weeks 22-40 of prenatal development (n = 111) and of newborn infants who died during the first week of postnatal life (n = 38) the changes were detected that were characterized by exocrine part hypoplasia, retardation of acinar pancreatocyte differentiation, connective tissue outgrowth, pancreatic (Langerhans) islet hyperplasia and hypertrophy. The results of the study have shown that with the increase of the total risk sum of the perinatal period pathology development (expressed in balls), the relative content of the insular part of the organ and the number of large pancreatic islets (larger than 100 microm in diameter) decreased. The morphological features detected in this study indirectly reflect endo-ecologically discomfortable conditions of fetus development within the fetoplacental unit which increase the risk of polyendocrinopathy development and fetal intrauterine growth retardation. These polyendocrinopathies increase further the risk of endocrine disturbance occurence in childhood.
Assuntos
Morte Fetal/patologia , Feto/patologia , Pâncreas/patologia , Feminino , Idade Gestacional , Humanos , Hiperplasia/patologia , Hipertrofia/patologia , Recém-Nascido , Mortalidade PerinatalRESUMO
We describe a mouse model of fetal loss in factor V Leiden (FvL) mothers in which fetal loss is triggered when the maternal prothrombotic state coincides with fetal gene defects that reduce activation of the protein C anticoagulant pathway within the placenta. Fetal loss is caused by disruption of placental morphogenesis at the stage of labyrinth layer formation and occurs in the absence of overt placental thrombosis, infarction, or perfusion defects. Platelet depletion or elimination of protease-activated receptor 4 (Par4) from the mother allows normal placentation and prevents fetal loss. These findings establish a cause-effect relationship for the observed epidemiologic association between maternal FvL status and fetal loss and identify fetal gene defects as risk modifiers of pregnancy failure in prothrombotic mothers. Pregnancy failure is mediated by Par4-dependent activation of maternal platelets at the fetomaternal interface and likely involves a pathogenic pathway independent of occlusive thrombosis. Our results further demonstrate that the interaction of two given thrombosis risk factors produces markedly disparate consequences on disease manifestation (i.e., thrombosis or pregnancy loss), depending on the vascular bed in which this interaction occurs.
Assuntos
Resistência à Proteína C Ativada/complicações , Plaquetas/metabolismo , Modelos Animais de Doenças , Fator V/genética , Morte Fetal/etiologia , Doenças Fetais/genética , Placenta/patologia , Resistência à Proteína C Ativada/genética , Animais , Feminino , Morte Fetal/patologia , Camundongos , Camundongos Endogâmicos C57BL , Placenta/irrigação sanguínea , Mutação Puntual/genética , Gravidez , Resultado da Gravidez/genética , Receptores de Trombina/metabolismo , Fatores de Risco , Trombomodulina/genéticaRESUMO
In vitro studies have documented ß2 glycoprotein I (ß2GPI) binding to endothelial cells (ECs) and trophoblast using antiphospholipid antibodies. The in vivo binding of ß2GPI to these cells and the conditions that favor their interaction have not been investigated. We analyzed the in vivo distribution of cyanine 5.5-labeled ß2GPI in mice and evaluated the effect of pregnancy and circulating antibodies on its tissue localization. The signal was detected in the liver by whole body scan and ex vivo analysis. The ß2GPI failed to bind to the vascular endothelium and reacted only with the ECs of uterine vessels. In pregnant mice the protein was localized on ECs and trophoblast at the embryo implantation sites. Immunized mice showed a similar ß2GPI biodistribution to naive mice but the immunized pregnant animals exhibited a significant increase in fetal loss associated with C3 and C9 deposition at the implantation sites. Treatment of mice with LPS after ß2GPI-Cy5.5 injection promoted protein localization on gut and brain ECs associated with IgG, C1q, and C9 deposition in immunized mice. These findings indicate that ß2GPI binding to EC requires priming with pro-inflammatory factors which is not needed for uterine and placental localization probably dependent on hormonal changes.
Assuntos
Células Endoteliais/metabolismo , Endotélio Vascular/metabolismo , Trofoblastos/metabolismo , Útero/metabolismo , beta 2-Glicoproteína I/sangue , Animais , Complemento C1q/metabolismo , Complemento C3/metabolismo , Complemento C9/metabolismo , Células Endoteliais/patologia , Endotélio Vascular/patologia , Feminino , Morte Fetal/sangue , Morte Fetal/patologia , Humanos , Camundongos , Camundongos Endogâmicos BALB C , Gravidez , Trofoblastos/patologia , Útero/irrigação sanguínea , Útero/patologiaRESUMO
PURPOSE OF REVIEW: To assess the relevance of perinatal and pediatric autopsies in genetic and metabolic diseases. RECENT FINDINGS: Genetic investigations are an important component of fetal autopsies. Despite the advances in imaging diagnosis, the autopsy can identify abnormalities not seen on ultrasound or MRI, as confirmed in recent comparative studies. This is crucial in the diagnosis of syndromic conditions in which the information may be essential to determine the syndrome. Genetic tests may also have a role in the investigation of intrauterine growth restriction and unexplained stillbirth. New techniques have increased the diagnostic yield, even in cases of macerated fetuses.The genetic autopsy is not limited to fetal loss. Genetic abnormalities underlie many cases presenting as sudden unexpected death in infancy, childhood and adolescence, and the need to obtain appropriate samples for genetic analysis applies not only to fetal autopsies. SUMMARY: Fetal autopsies are still the gold standard in diagnosis of fetal abnormalities. Genetic studies are an important component, not only in cases of congenital malformations, but also in unexplained intrauterine death and sudden unexpected death in infancy, as well as in children and adults.
Assuntos
Autopsia , Anormalidades Congênitas/genética , Morte Fetal/genética , Testes Genéticos , Morte Súbita do Lactente/genética , Aborto Induzido , Autopsia/métodos , Autopsia/tendências , Pré-Escolar , Anormalidades Congênitas/patologia , Feminino , Morte Fetal/patologia , Aconselhamento Genético , Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Morte Súbita do Lactente/patologia , Síndrome , Bancos de TecidosRESUMO
Abnormal maternal inflammation during pregnancy is associated with spontaneous pregnancy loss and intrauterine fetal growth restriction. However, the mechanisms responsible for these pregnancy outcomes are not well understood. In this study, we used a rat model to demonstrate that pregnancy loss resulting from aberrant maternal inflammation is closely linked to deficient placental perfusion. Administration of LPS to pregnant Wistar rats on gestational day 14.5, to induce maternal inflammation, caused fetal loss in a dose-dependent manner 3-4 h later, and surviving fetuses were significantly growth restricted. Pregnancy loss was associated with coagulopathy, structural abnormalities in the uteroplacental vasculature, decreased placental blood flow, and placental and fetal hypoxia within 3 h of LPS administration. This impairment in uteroplacental hemodynamics in LPS-treated rats was linked to increased uterine artery resistance and reduced spiral arteriole flow velocity. Pregnancy loss induced by LPS was prevented by maternal administration of the immunoregulatory cytokine IL-10 or by blocking TNF-α activity after treatment with etanercept (Enbrel). These results indicate that alterations in placental perfusion are responsible for fetal morbidities associated with aberrant maternal inflammation and support a rationale for investigating a potential use of immunomodulatory agents in the prevention of spontaneous pregnancy loss.
Assuntos
Aborto Espontâneo/imunologia , Aborto Espontâneo/patologia , Perda do Embrião/imunologia , Troca Materno-Fetal/imunologia , Placenta/irrigação sanguínea , Útero/irrigação sanguínea , Aborto Espontâneo/fisiopatologia , Animais , Modelos Animais de Doenças , Perda do Embrião/patologia , Perda do Embrião/fisiopatologia , Feminino , Morte Fetal/imunologia , Morte Fetal/patologia , Morte Fetal/fisiopatologia , Hemodinâmica/imunologia , Inflamação/imunologia , Inflamação/patologia , Inflamação/fisiopatologia , Lipopolissacarídeos/administração & dosagem , Masculino , Gravidez , Ratos , Ratos WistarRESUMO
High-intensity focused ultrasound (HIFU) has excellent potential as a non-invasive therapeutic tool in various fields of medicine. We present a case of twin reversed arterial perfusion sequence, in which non-invasive blood flow occlusion in the acardiac fetus was successfully achieved by means of HIFU exposure from outside the maternal abdomen. HIFU was applied to blood vessels of the acardiac fetus at the point at which the umbilical cord entered the body in a series of four procedures at 3-day intervals starting at 13 weeks' gestation, and in a final procedure with higher power at 17 weeks. The HIFU intensity was set at approximately 2300 W/cm(2) for the initial series of procedures and at 4600 W/cm(2) for the final procedure, with exposure periods of 10 s. As color Doppler examination revealed absence of blood flow to the acardiac fetus after the second round of HIFU exposure, we concluded that complete occlusion of target vessels had been achieved. Delivery was by Cesarean section at 37 weeks' gestation. A male neonate (the pump fetus) was born weighing 1903 g with Apgar scores of 8 and 9 at 1 and 5 min, respectively. At the time of writing, the baby was healthy and growing normally, with the exception of congenital pseudarthrosis.
Assuntos
Anormalidades Múltiplas/patologia , Morte Fetal/patologia , Transfusão Feto-Fetal/patologia , Ablação por Ultrassom Focalizado de Alta Intensidade , Pseudoartrose/patologia , Cordão Umbilical/patologia , Anormalidades Múltiplas/embriologia , Adulto , Cesárea , Feminino , Transfusão Feto-Fetal/terapia , Ablação por Ultrassom Focalizado de Alta Intensidade/métodos , Humanos , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez , Pseudoartrose/congênitoRESUMO
OBJECTIVE: To describe the sonographic features and pregnancy outcomes of placental mesenchymal dysplasia (PMD), an entity often misdiagnosed as molar pregnancy. METHODS: We reviewed PMD cases from our institution and performed a systematic review of the existing literature. Inclusion criteria for the review were diagnosis of PMD as defined by placental pathology, description of placental morphology on antenatal ultrasound and reporting of pregnancy outcomes. RESULTS: We found three cases of PMD at our institution. Patient 1 had elevated human chorionic gonadotropin (hCG) and an enlarged, hydropic placenta at 13 weeks, suggestive of a molar pregnancy. Patient 2 also had elevated hCG with large, vascular placental lakes on ultrasound suggesting placenta accreta or molar pregnancy. Case 3 involved placentomegaly and fetal anomalies suggestive of Beckwith-Wiedemann syndrome. From the literature review, 61 cases met the inclusion criteria. The most common sonographic features included enlarged (50%) and cystic (80%) placenta with dilated chorionic vessels. Biochemical aneuploidy screening abnormalities were relatively common as were fetal anomalies, Beckwith-Wiedemann syndrome and other genetic abnormalities. Pregnancy complications included intrauterine growth restriction (IUGR; 33%), intrauterine fetal death (IUFD; 13%), and preterm labor (33%). Pregnancies without fetal anomalies, IUGR, IUFD or preterm labor had normal neonatal outcomes despite PMD (9%). CONCLUSIONS: The differential diagnosis of PMD includes molar pregnancy and other placental vascular anomalies. PMD is associated with adverse pregnancy outcome, so heightened surveillance with genetic evaluation, serial growth scans and third-trimester assessment of wellbeing should be considered. PMD must be differentiated from gestational trophoblastic disease because management and outcomes differ.
Assuntos
Morte Fetal/diagnóstico por imagem , Doenças Fetais/diagnóstico por imagem , Mola Hidatiforme/diagnóstico por imagem , Doenças Placentárias/diagnóstico por imagem , Placenta/patologia , Ultrassonografia Pré-Natal/métodos , Síndrome de Beckwith-Wiedemann/diagnóstico por imagem , Diagnóstico Diferencial , Feminino , Morte Fetal/patologia , Doenças Fetais/patologia , Humanos , Mola Hidatiforme/patologia , Recém-Nascido , Placenta/diagnóstico por imagem , Doenças Placentárias/patologia , Gravidez , Fatores de RiscoRESUMO
OBJECTIVES: To review the association between ultrasound findings, placental pathology, and prognosis in pregnancies complicated by massive subchorionic thrombohematoma (MTH)/Breus' mole. METHOD: We identified 14 cases of MTH from January 2004 to December 2012. MTH was defined by >1 cm thickness hematoma and extensive (≥50%) involvement of the fetal surface of the placenta. Patient information, details of initial presentation, and perinatal outcome were obtained from the manual and electronic chart records. Ultrasound findings were related to pregnancy outcomes and associated placental pathology. Participants were stratified on the basis of birth outcome into survivors (live births, n = 7) and nonsurvivors (neonatal deaths or intrauterine fetal deaths/termination of pregnancy, n = 7). RESULTS: All 14 cases of MTH were suspected on ultrasound and confirmed by pathology assessment. All cases in the nonsurvivor group had abnormal umbilical artery (UA) Doppler waveforms compared with none in the survivors (p = 0.02). All cases in the nonsurvivor group had extreme preterm deliveries (p = 0.02). Birth weight was significantly reduced in the nonsurvivor group (p = 0.001), and 5/7 cases were diagnosed with severe intrauterine growth restriction, compared with none in the survivor group (p = 0.02). CONCLUSION: Massive subchorionic thrombohematoma/Breus' mole may be diagnosed in the second trimester by ultrasound assessment of the placenta. Normal fetal growth and UA Doppler waveforms are associated with perinatal survival.
Assuntos
Hematoma/diagnóstico por imagem , Hematoma/patologia , Doenças Placentárias/diagnóstico por imagem , Doenças Placentárias/patologia , Resultado da Gravidez , Diagnóstico Pré-Natal/métodos , Adulto , Córion/diagnóstico por imagem , Córion/patologia , Feminino , Morte Fetal/epidemiologia , Morte Fetal/patologia , Humanos , Recém-Nascido , Nascido Vivo/epidemiologia , Gravidez , Resultado da Gravidez/epidemiologia , Diagnóstico Pré-Natal/estatística & dados numéricos , Ultrassonografia , Adulto JovemRESUMO
OBJECTIVE: To study the association of placental weight and placental weight/birthweight ratio with gestational age-specific fetal death. DESIGN: Population-based study. SETTING: Medical Birth Registry of Norway. POPULATION: All singleton births in Norway, 1999-2008 (n = 534 892). METHODS: Gestational age-specific quartiles of placental weight and placental weight/birthweight ratio were estimated, and proportions of fetal deaths and live births within the lowest and highest quartile were compared. The risk of fetal death associated with placental weight/birthweight ratio was estimated as crude and adjusted odds ratios. MAIN OUTCOME MEASURES: Offspring vital status. RESULTS: Pregnancies with fetal death were overrepresented in the lowest quartile of placental weight and placental weight/birthweight ratio in term and preterm deliveries. In preterm deliveries, fetal deaths were also overrepresented in the highest placental weight/birthweight ratio. Adjusted odds ratio of fetal death in preterm deliveries was 1.67 (95% confidence interval 1.44-1.94) for placental weight/birthweight ratio in the lowest quartile and 1.79 (95% confidence interval 1.55-2.08) in the highest quartile. Corresponding odds ratios for deliveries at term were 1.76 (95% confidence interval 1.50-2.06) and 1.18 (95% confidence interval 0.99-1.41). CONCLUSIONS: Both small and large placentas relative to birthweight were associated with fetal death in preterm births. At term, only small placentas relative to birthweight were associated with fetal death. Understanding the mechanisms behind the increased risk of adverse pregnancy outcomes in pregnancies with disproportionate placental weight/birthweight ratio may be important for prevention of fetal deaths.
Assuntos
Peso ao Nascer , Morte Fetal/epidemiologia , Placenta/patologia , Feminino , Morte Fetal/patologia , Idade Gestacional , Humanos , Nascido Vivo/epidemiologia , Noruega/epidemiologia , Razão de Chances , Tamanho do Órgão , Gravidez , Sistema de Registros , Natimorto/epidemiologiaRESUMO
Aplasia cutis congenita (ACC) can be associated with fetus papyraceus. We report here the first case of ACC linked to fetus papyraceus with pulmonary anomalies. At birth, the patient presented with skin lesions of the trunk consisting of well-defined, symmetrically distributed, bilateral atrophic ulcerations. Physical examination was otherwise normal. Persistent bronchospasm occurred at the age of 7 months; computed tomography images showed small bilateral pulmonary bullae. At the age of 5 years, skin and pulmonary lesions had not extended. Although the mechanisms of ACC linked to fetus papyraceus are unclear, vascular ischemia is strongly suggested, and could explain the bilateral and symmetric congenital skin and lung aplasia.
Assuntos
Doenças em Gêmeos/patologia , Displasia Ectodérmica/patologia , Morte Fetal/patologia , Pneumopatias/patologia , Pulmão/anormalidades , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Pulmão/diagnóstico por imagem , Pneumopatias/congênito , Pneumopatias/diagnóstico por imagem , Masculino , Radiografia , SobreviventesRESUMO
The indications of the pathological examination of the placenta are mainly represented by uteroplacental vascular deficiency. The clinical context is often evocative, but it can sometimes be solely an intra-uterine growth retardation or an unexplained in utero fetal death. So, the pathological lesions of this uteroplacental vascular deficiency must be well-known to be correctly interpreted, for none of these lesions is truly specific. The pathological diagnosis is based on a group of macroscopic and microscopic arguments. Various physiopathological mechanisms, often imperfectly known, can be at the origin of an uteroplacental vascular insufficiency, but in the current position, the pathological examination does not allow etiopathogenic orientation. The development of the trophoblastic biopsies gives us access to a new material which, in parallel with the cytogenetic analysis, often allows us, in front of an unexplained intra-uterine growth retardation, to direct the diagnosis towards uteroplacental vascular insufficiency. The histological analysis of the chorionic villous sampling taken precociously during pathological pregnancies is thus a major diagnostic contribution. But especially, this analysis gives access to new information which, in the near future, will enable us to better define the pathological evolution of the lesions of hypoxic chorionic villous and to contribute to a better knowledge of this pathology which, under many aspects, still conceals many mysteries.
Assuntos
Doenças Placentárias/patologia , Placenta/patologia , Circulação Placentária , Útero/patologia , Vilosidades Coriônicas/química , Vilosidades Coriônicas/patologia , Amostra da Vilosidade Coriônica , Cistos/patologia , Feminino , Morte Fetal/patologia , Hipóxia Fetal/etiologia , Fibrina/análise , Idade Gestacional , Humanos , Infarto/patologia , Necrose , Tamanho do Órgão , Placenta/irrigação sanguínea , Gravidez , Complicações na Gravidez/fisiopatologia , Trofoblastos/patologia , Útero/irrigação sanguíneaRESUMO
The cytomegalovirus (CMV) is the most common maternal-fetal transmission infectious disease. The diagnosis of this infection is rarely made on antenatal sonographic signs. Pathological examination could, in this case, make etiologic diagnosis. We report the case of a terminated pregnancy, at the term of 19 weeks of gestation, occurring in a 31-year-old woman. The sonography found a terminated pregnancy with anamnios. Histological examination of samples of fetal internal organs showed intranuclear inclusions, compatible with CMV infection. The main objective of our work is to emphasize the value of histological examination in the diagnosis of fetal death etiology. Moreover, we will discuss the benefit of antenatal screening of CMV maternal infection.
Assuntos
Infecções por Citomegalovirus/embriologia , Morte Fetal/etiologia , Adulto , Autopsia , Encéfalo/embriologia , Encéfalo/ultraestrutura , Encéfalo/virologia , Infecções por Citomegalovirus/complicações , Infecções por Citomegalovirus/diagnóstico , Infecções por Citomegalovirus/patologia , Feminino , Morte Fetal/patologia , Morte Fetal/virologia , Hematopoese Extramedular , Humanos , Corpos de Inclusão Viral/ultraestrutura , Fígado/embriologia , Fígado/ultraestrutura , Fígado/virologia , Pulmão/embriologia , Pulmão/ultraestrutura , Pulmão/virologia , Masculino , Gravidez , Complicações Infecciosas na GravidezRESUMO
Placental mesenchymal dysplasia (PMD) is characterized by placentomegaly and grapelike vesicles resembling a partial molar pregnancy and in most cases, a phenotypically normal fetus. Hepatic mesenchymal hamartoma (HMH) is a benign hamartomatous proliferation of mesenchymal liver tissue. PMD has been associated with HMH. Although rare, in combination, it is known to carry a poorer prognosis than in fetuses without structural abnormalities. There are only a few reported cases of PMD and associated HMH with varying management strategies and outcomes, precluding ascertainment of the most appropriate treatment plan. We present a case of PMD with associated cystic HMH resulting in fetal death. We also reviewed the published literature on this issue and explored possible management strategies to prevent adverse fetal and neonatal outcomes.
Assuntos
Hamartoma/congênito , Hepatopatias/congênito , Placenta/patologia , Adulto , Feminino , Morte Fetal/patologia , Hamartoma/diagnóstico por imagem , Hamartoma/patologia , Humanos , Recém-Nascido , Hepatopatias/diagnóstico por imagem , Hepatopatias/patologia , Mesoderma/diagnóstico por imagem , Mesoderma/patologia , Placenta/diagnóstico por imagem , Gravidez , UltrassonografiaRESUMO
Menkes disease is a lethal X-linked recessive neurodegenerative disorder of copper transport caused by mutations in ATP7A, which encodes a copper-transporting ATPase. Early postnatal treatment with copper injections often improves clinical outcomes in affected infants. While Menkes disease newborns appear normal neurologically, analyses of fetal tissues including placenta indicate abnormal copper distribution and suggest a prenatal onset of the metal transport defect. In an affected fetus whose parents found termination unacceptable and who understood the associated risks, we began in utero copper histidine treatment at 31.5 weeks gestational age. Copper histidine (900 µg per dose) was administered directly to the fetus by intramuscular injection (fetal quadriceps or gluteus) under ultrasound guidance. Percutaneous umbilical blood sampling enabled serial measurement of fetal copper and ceruloplasmin levels that were used to guide therapy over a four-week period. Fetal copper levels rose from 17 µg/dL prior to treatment to 45 µg/dL, and ceruloplasmin levels from 39 mg/L to 122 mg/L. After pulmonary maturity was confirmed biochemically, the baby was delivered at 35.5 weeks and daily copper histidine therapy (250 µg sc b.i.d.) was begun. Despite this very early intervention with copper, the infant showed hypotonia, developmental delay, and electroencephalographic abnormalities and died of respiratory failure at 5.5 months of age. The patient's ATP7A mutation (Q724H), which severely disrupted mRNA splicing, resulted in complete absence of ATP7A protein on Western blots. These investigations suggest that prenatally initiated copper replacement is inadequate to correct Menkes disease caused by severe loss-of-function mutations, and that postnatal ATP7A gene addition represents a rational approach in such circumstances.
Assuntos
Adenosina Trifosfatases/genética , Proteínas de Transporte de Cátions/genética , Feto/efeitos dos fármacos , Histidina/análogos & derivados , Síndrome dos Cabelos Torcidos/tratamento farmacológico , Síndrome dos Cabelos Torcidos/genética , Mutação , Compostos Organometálicos/uso terapêutico , Catecóis/sangue , Ceruloplasmina/metabolismo , Cobre/sangue , ATPases Transportadoras de Cobre , Feminino , Morte Fetal/patologia , Histidina/administração & dosagem , Histidina/uso terapêutico , Humanos , Compostos Organometálicos/administração & dosagem , Placenta/metabolismo , Placenta/patologia , Gravidez , NatimortoRESUMO
OBJECTIVE: The autopsy and clinical information on children dying with anti-SSA/Ro-associated cardiac manifestations of neonatal lupus (cardiac NL) were examined to identify patterns of disease, gain insight into pathogenesis and enhance the search for biomarkers and preventive therapies. METHODS: A retrospective analysis evaluating reports from 18 autopsies of cardiac NL cases and clinical data from the Research Registry for Neonatal Lupus was performed. RESULTS: Of the 18 cases with autopsies, 15 had advanced heart block, including 3 who died in the second trimester, 9 in the third trimester and 3 post-natally. Three others died of cardiomyopathy without advanced block, including two dying pre-natally and one after birth. Pathological findings included fibrosis/calcification of the atrioventricular (AV) node, sinoatrial (SA) node and bundle of His, endocardial fibroelastosis (EFE), papillary muscle fibrosis, valvular disease, calcification of the atrial septum and mononuclear pancarditis. There was no association of pathology with the timing of death except that in the third-trimester deaths more valvular disease and/or extensive conduction system abnormalities were observed. Clinical rhythm did not always correlate with pathology of the conduction system, and the pre-mortem echocardiograms did not consistently detect the extent of pathology. CONCLUSION: Fibrosis of the AV node/distal conduction system is the most characteristic histopathological finding. Fibrosis of the SA node and bundle of His, EFE and valve damage are also part of the anti-Ro spectrum of injury. Discordance between echocardiograms and pathology findings should prompt the search for more sensitive methods to accurately study the phenotype of antibody damage.
Assuntos
Doenças Fetais , Bloqueio Cardíaco , Sistema de Condução Cardíaco , Lúpus Eritematoso Sistêmico/congênito , Anticorpos Antinucleares/metabolismo , Biomarcadores/metabolismo , Calcinose/imunologia , Calcinose/metabolismo , Calcinose/patologia , Feminino , Morte Fetal/imunologia , Morte Fetal/metabolismo , Morte Fetal/patologia , Doenças Fetais/imunologia , Doenças Fetais/mortalidade , Doenças Fetais/patologia , Fibrose/imunologia , Fibrose/metabolismo , Fibrose/patologia , Bloqueio Cardíaco/congênito , Bloqueio Cardíaco/mortalidade , Bloqueio Cardíaco/patologia , Sistema de Condução Cardíaco/imunologia , Sistema de Condução Cardíaco/metabolismo , Sistema de Condução Cardíaco/patologia , Humanos , Lactente , Recém-Nascido , Lúpus Eritematoso Sistêmico/imunologia , Lúpus Eritematoso Sistêmico/mortalidade , Lúpus Eritematoso Sistêmico/patologia , Miocárdio/imunologia , Miocárdio/metabolismo , Miocárdio/patologia , Gravidez , Sistema de Registros , Estudos Retrospectivos , Fatores de RiscoRESUMO
The ovaries of eight African elephant foetuses and their mothers between 2 and 22 months of gestation, and those of two cycling and two lactating elephants, were examined grossly, histologically and immunocytochemically, with emphasis on the development and regression of accessory corpora lutea (CL) of pregnancy and the steroidogenic capacities of the accessory CL and the foetal ovaries. The results supported recent findings that the accessory CL form as a result of luteinisation, with and without ovulation, of medium-sized follicles during the 3-week inter-luteal period of the oestrous cycle. They enlarge significantly and become steroidogenically active around 5 weeks of gestation, probably in response to the placental lactogen which is secreted by the implanting trophoblast of the conceptus. The large luteal cells stained strongly for 3ß hydroxysteroid dehydrogenase (3ßHSD) activity throughout the 22-month gestation period although they showed vacuolation and other degenerative changes in the final months of gestation coincident with hypertrophy and hyperplasia of 3ßHSD-positive interstitial cells in the foetal gonads. It is proposed that the progestagens secreted by the enlarged gonads of the elephant foetus may function both to assist the maternal ovaries in supporting the pregnancy state and to induce torpor and intrauterine immobility of the rapidly growing foetus.